ClinVar Miner

List of variants reported as likely benign for Combined oxidative phosphorylation defect type 7; Spastic paraplegia by Invitae

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_152269.5(MTRFR):c.54G>A (p.Pro18=) rs188310109 0.00031
NM_152269.5(MTRFR):c.336A>G (p.Leu112=) rs138538426 0.00025
NM_152269.5(MTRFR):c.283-19_283-16dup rs758700066 0.00021
NM_152269.5(MTRFR):c.120G>A (p.Pro40=) rs377142152 0.00011
NM_152269.5(MTRFR):c.282+17C>T rs1197939863 0.00002
NM_152269.5(MTRFR):c.405G>A (p.Ala135=) rs941522491 0.00002
NM_152269.5(MTRFR):c.276T>C (p.Val92=) rs907535491 0.00001
NM_152269.5(MTRFR):c.333C>A (p.Ile111=) rs769551356 0.00001
NM_152269.5(MTRFR):c.57G>A (p.Ala19=) rs749569183 0.00001
NM_152269.5(MTRFR):c.90G>A (p.Thr30=) rs775127232 0.00001
NM_152269.5(MTRFR):c.123C>A (p.Val41=)
NM_152269.5(MTRFR):c.153A>G (p.Ala51=)
NM_152269.5(MTRFR):c.204C>T (p.His68=)
NM_152269.5(MTRFR):c.234C>A (p.Thr78=) rs140942886
NM_152269.5(MTRFR):c.246G>A (p.Val82=) rs1593287730
NM_152269.5(MTRFR):c.258C>T (p.His86=)
NM_152269.5(MTRFR):c.267A>G (p.Ser89=)
NM_152269.5(MTRFR):c.282+15G>A
NM_152269.5(MTRFR):c.282+18G>A
NM_152269.5(MTRFR):c.283-10T>C
NM_152269.5(MTRFR):c.283-12_283-10del
NM_152269.5(MTRFR):c.283-13T>C
NM_152269.5(MTRFR):c.283-7_283-6del
NM_152269.5(MTRFR):c.283-8T>G
NM_152269.5(MTRFR):c.303T>C (p.Val101=) rs2048186948
NM_152269.5(MTRFR):c.357C>T (p.Phe119=)
NM_152269.5(MTRFR):c.372C>T (p.Asn124=)
NM_152269.5(MTRFR):c.423G>A (p.Arg141=)
NM_152269.5(MTRFR):c.426A>G (p.Lys142=)
NM_152269.5(MTRFR):c.450A>G (p.Glu150=)
NM_152269.5(MTRFR):c.462A>T (p.Leu154=) rs1465610404
NM_152269.5(MTRFR):c.93G>A (p.Leu31=)
NM_152269.5(MTRFR):c.99C>T (p.Ser33=) rs2138792659
NM_152269.5(MTRFR):c.9C>T (p.Thr3=)

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